An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals;Una mirada al albinismo óculo-cutáneo: Reporte de mutaciones en el gen TYR en cinco individuos colombianos

Biomedica

Volumn 32, Issue 2, 2012, Pages 269-276

  Sanabria, Diana ^a   Groot, Helena ^a   Guzmán, Julio ^b   Lattig, María Claudia ^a  

^a UNIVERSIDAD DE LOS ANDES   (Colombia)

^b University of Area Andina   (Colombia)

Author keywords

Albinism; Colombia; Contact lenses; Monofenol monooxigenasa; Mutation; Oculocutaneus

Indexed keywords

MONOPHENOL MONOOXYGENASE;

ADULT; ARTICLE; ASTIGMATISM; CHILD; COLOMBIA; CONTACT LENS; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; LASER EPITHELIAL KERATOMILEUSIS; MALE; METHODOLOGY; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OCULOCUTANEOUS ALBINISM; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

ALBINISM, OCULOCUTANEOUS; ASTIGMATISM; CHILD; COLOMBIA; CONTACT LENSES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; KERATECTOMY, SUBEPITHELIAL, LASER-ASSISTED; MALE; MIDDLE AGED; MONOPHENOL MONOOXYGENASE; MUTATION, MISSENSE; NYSTAGMUS, PATHOLOGIC; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; YOUNG ADULT;

EID: 84869795209     PISSN: 01204157     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Zhao H, Boissy RE. Distinguishing between the catalytic potential and apparent expression of tyrosinase activities.Am J Med Sci. 994;308:322-30.
2. Witkop CJ. Albinism: Hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism.Ala J Med Sci. 1979;16:327-30.
3. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43.
4. Meyer CH, Lapolice DJ, Freedman SF. Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. Am J Ophthalmol. 2002;133:409-10.
5. Creel D. Problems of ocular miswiring in albinism, Duaněs syndrome, and Marcus Gunn phenomenon. Int Ophthalmol Clin. 1984;24:165-76.
6. Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet.1990;11:193-200.
7. Abadi RV. Mechanisms underlying nystagmus. J R Soc Med. 2002;95:231-4.
8. King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, et al. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003;113:502-13.
9. King RA, Hearing VJ, Creel D, Oetting WS. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle DY, editors. The metabolic and molecular basis of inherited disease. Séptima edición. New York: McGraw-Hill; 1995. p. 4353-92.
10. Sinclair FG. El albinismo entre los amerindios de Panamá. Scientia (Panama). 1989;4:41-50.
11. Soto-Calderón ID. Evaluación histórica y genética del origen de Marinilla y su zona de influencia. Medellin:Universidad de Antioquia; 2003.
12. Tirado-Muẽoz MC. Estudio de la isonimia en el albinismo de la población de El Santuario. Medellin: Universidad de Antioquia; 1987.
13. Bravo-Aguilar ML. Estudio genético epidemiológico del albinismo como un pro regional de El Santuario 1990 (tesis).Medellín: Universidad de Antioquia; 1990.
14. Barton DE, Kwon BS, Francke U. Human tyrosinase gene, mapped to chromosome 11 (q14--q21), defines second region of homology with mouse chromosome 7. Genomics. 1988;3:17-24.
15. Kwon BS, Haq AK, Kim GS, Pomerantz SH, Halaban R. Cloning and characterization of a human tyrosinase cDNA. Prog Clin Biol Res. 1988;256:273-82.
16. Cooksey CJ, Garratt PJ, Land EJ, Pavel S, Ramsden CA, Riley PA, et al. Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase. J Biol Chem.1997;272:26226-35.
17. Oetting WS, Fryer JP, Shriram S, King RA. Oculocutaneous albinism type 1: The last 100 years. Pigment cell research/sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society.2003;16:307-11.
18. Oetting WS, Garrett SS, Brott M, King RA. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat. 2005;25:323.
19. Chaki M, Mukhopadhyay A, Ray K. Determination of variants in the 3̌-region of the tyrosinase gene requires locus specific amplification. Hum Mutat. 2005;26:53-8.
20. Oetting WS, King RA. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999;13:99-115.
21. Sundaresan P, Sil AK, Philp AR, Randolph MA, Natchiar G, Namperumalsamy P. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families:Two novel frameshift mutations in the TYR Gene. Mol Vis. 2004;10:1005-10.
22. Chaki M, Mukhopadhyay A, Chatterjee S, Das M, Samanta S, Ray K. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. Mol Vis. 2005;11:531-4.
23. Giebel LB, Spritz RA. RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res. 1990;18:3103.
24. Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Gen. 1994;54:586-94.
25. Oetting WS, Witkop CJ, Jr., Brown SA, Colomer R, Fryer JP, Bloom KE, et al. A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Gen.1993;52:17-23.
26. Santiago PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Munoz D, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006;126:85-90.
27. Opitz S, Kasmann-Kellner B, Kaufmann M, Schwinger E, Zuhlke C. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. Hum Mutat. 2004;23:630-1.
28. Hutton SM, Spritz RA. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008;128:2442-50.
29. Ladero-Quesada MA, Valdeón BJ, Alcala-Galve J. Judíos sefarditas conversos: la expulsión de 1492 y sus consecuencias. Valladolid: Ámbito Editores S.A.; 1995.
30. Wilson R. The National Organization for Albinism and Hypopigmentation (NOAH). Insight. 1993;18:8.
31. Hertle RW, Anninger W, Yang D, Shatnawi R, Hill VM. Effects of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). Am J Ophthalmol. 2004;138:978-87.
32. Gauthier CA, Grant T, Holden BA. Clinical performance of two opaque, tinted soft contact lenses. J Am Optom Assoc. 1992;63:344-9.